The limits of privacy

Bartha Knoppers is a professor of law from McGill University in Montreal, Canada, and an internationally recognized expert on the ethical aspects of genetics and biotechnology. She is one of the speakers at the upcoming Science & Society Conference on Public and Private Health: Genomics, Medicine and Society which will be held in Heidelberg from 7–8 November and her talk will focus on Large data collections: protecting research participants while allowing useful research. In an interview with EMBOencounters, she talks about the privacy of health information in the digital age.

In which research areas are large genomic databases particularly helpful?

The rare diseases community is very active when it comes to sharing data, pictures and samples. In their view, data sharing should not be unduly hampered with legislation and overly stringent ethics committees. If only 300 people around the world have a certain disease, it becomes imperative for them to be able to share data and samples.

With sequencing becoming increasingly popular and its costs falling are people more concerned about the risks of sharing data?

While genetic data is sensitive information, I am very much in the school of thought that we should get used to the idea of sharing under proper governance as a starting point, albeit with privacy protections where desired. Today, the reverse is true. Your privacy comes first and then have to struggle around it. I think the privacy aspect is exaggerated. The more we learn about the role of genetics the more we understand that this is just a factor among other factors such as the environment and lifestyle that influence health and disease.

What are the most important privacy issues in the digital age in your opinion?

One of the driving forces in the privacy debate is “big data”. It makes it possible for commercial entities or indeed anyone, through various sources of totally unconnected data, to come up with a composite picture of an individual who was presumed to be unidentifiable. There are definite privacy issues here.

The other phenomenon is that of individuals who voluntarily make their DNA and other health information available online. They are not concerned that others can see their genome or who their ancestors or their family members are. There is an emerging culture of saying ‘I do not want to be private and have different walls imposed on me.’ This reflects a change in privacy attitudes that is promoted and sustained by social media.

Large research projects using whole-genome sequencing (WGS) are happening at the same time as the emergence of the electronic medical record. Should the patient be concerned about genetic privacy?

The medical record and the research record have rarely been connected to date. But with WGS, the barriers between the two domains are beginning to converge. Again, the driving force is technology. By using whole- genome sequencing to find out more about a specific disease you also get information on so-called incidental findings that may be clinically important but may also be in your medical record.

The recommendations on the return of incidental findings to patients by the American College of Medical Genetics have caused a lot of controversy recently. They require that all laboratories conducting DNA sequencing to identify disease-associated genes also test for mutations in 57 genes. Laboratories have to return the 57 results as a condition of the test – whether the patient likes it or not. This proposal has caused an absolute uproar as many think that it is taking away the patient’s right not to know as well as the clinical judgment of the physician who would typically receive such results and put them in the medical record.

What is your opinion on the proposed European directive on privacy?

The proposed regulation in Europe says that you need a “specific, explicit and informed consent” for every use of data and samples. Yet, in certain types of scientific research obtaining such consent is not feasible. As a result, many European researchers fear that this regulation could hinder or prevent medical discoveries in future. The rare diseases community is very upset about this proposed amendment. They want their samples and data to be used to the maximum for health research and the development of eventual therapies.

What topics and lectures at the upcoming conferences are you particularly looking forward to?

I am looking forward to hearing more about the international aspects. Science is becoming increasingly collaborative, so what does this mean for the country-by-country approaches to privacy? This topic seems to be stirring up a lot of public interest nowadays – in many different ways.